Browsing by Author "Fırtına, Sinem"
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Mutational landscape of severe combined immunodeficiency patients from Turkey
Fırtına, Sinem; Ng, Yuk Yin; Ng, Özden Hatırnaz; Kıykım, Ayça; Aydıner, Elif; Nepesov, Serdar; Camcıoğlu, Yıldız; Sayar, Esra H.; Reisli, İsmail; Torun, Selda H.; Çoğurlu, Tuba; Uygun, Dilara; Eser Şimşek, Işıl; Kaya, Ayşenur; Çipe, Funda; Çağdaş, Deniz; Yücel, Esra; Çekiç, Şükrü; Uygun, Vedat; Barış, Safa; Özen, Ahmet; Özbek, Uğur; Sayitoğlu, Müge (Wiley, 2020)Severe combined immunodeficiency (SCID) has a diverse genetic aetiology, where a clinical phenotype, caused by single and/or multiple gene variants, can give rise to multiple presentations. The advent of next-generation ... -
Neuromyelitis optica and neuromyelitis optica spectrum disorders: the evaluation of 86 patients followed by Istanbul Bilim University
Altunrende, Burcu; Tavlı, Ahmet Mithat; Altınkaya, Ayça; Topçular, Barış; Kocarslan, Meryem; Server, Sadık; Fırtına, Sinem; Yenice, Sedef; Akman Demir, Gülsen (Sage Publications Ltd., 2014)… -
Neuromyelitis optica and neuromyelitis optica spectrum disorders: The evaluation of 86 patients followed by Istanbul Bilim University, department of neurology
Altunrende, Burcu; Tavlı, Ahmet Mithat; Altınkaya, Ayça; Topçular, Barış; Kocarslan, Meryem; Server, Sadık; Fırtına, Sinem; Yenice, Sedef; Akman Demir, Gülsen (Sage PubLlications, 2015)Background and objectives: Neuromyelitis optica (NMO) and its spectrum disorders (NMOSD) are relatively rare disorders. We aimed to evaluate clinical characteristics and disease course of the NMOSD patients followed at our ... -
Primary antibody deficiencies in Turkey: Molecular and clinical aspects
Fırtına, Sinem; Ng, Yuk Yin; Ng, Özden Hatırnaz; Kıykım, Ayça; Yücel Özek, Esra; Kara, Manolya; Aydıner, Elif; Nepesov, Serdar; Camcıoğlu, Yıldız; Sayar, Esra Hazar; Güngören, Ezgi Yalçın; Reisli, İsmail; Hançerli Törün, Selda; Haskoloğlu, Şule; Çöğürlü, Tuba; Kaya, Ayşenur; Çekiç, Şükrü; Barış, Safa; Özbek, Uğur; Özen, Ahmet; Sayitoğlu, Müge (Humana Press Inc, 2022)Primary antibody deficiencies (PAD) are the most common subtype of primary immunodeficiencies, characterized by increased susceptibility to infections and autoimmunity, allergy, or malignancy predisposition. PAD syndromes ... -
Primary antibody deficiencies in Turkey: molecular and clinical aspects (Oct, 10.1007/s12026-021-09242-z, 2021)
Fırtına, Sinem; Ng, Yuk Yin; Ng, Özden Hatırnaz; Kıykım, Ayça; Yücel Özek, Esra; Kara, Manolya; Aydıner, Elif; Nepesov, Serdar; Camcıoğlu, Yıldız; Sayar, Esra Hazar; Güngören, Ezgi Yalçın; Reisli, İsmail; Hançerli Törün, Selda; Haskoloğlu, Şule; Çöğürlü, Tuba; Kaya, Ayşenur; Çekiç, Şükrü; Barış, Safa; Özbek, Uğur; Özen, Ahmet; Sayitoğlu, Müge (Humana Press Inc, 2022)The original published version of this article contained a mistake in one of the afliations. The correct afliation of author Manolya Kara (7) should read.
